A. Dalal

T. Krings, A. Dalal, K. Nagarajan, 2018, Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences.

Untapped opportunities for rare disease gene discovery in India

S. Phadke, K. Girisha, A. Dalal, 2020, American journal of medical genetics. Part A.

PAN-INDIA 1000 SARS-CoV-2 RNA Genome Sequencing Reveals Important Insights into the Outbreak

S. Raghav, S. Mayor, F. Ali, 2020, bioRxiv.

Splice, Insertion‐Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India

M. Kabra, M. Bashyam, A. Dalal, 2014, Journal of cellular biochemistry.

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

M. Kabra, S. Phadke, K. Mandal, 2021, Human mutation.

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.

A. Dalal, M. Prata, S. Aggarwal, 2014, Gene.

ARHGEF9 disease

S. Scherer, C. Marshall, S. Walker, 2017, Neurology: Genetics.

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

F. Kortüm, K. Girisha, A. Dalal, 2015, European Journal of Human Genetics.

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

M. Kabra, S. Phadke, K. Girisha, 2016, American journal of medical genetics. Part A.

Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b

A. Dalal, U. Dutta, Amrita Bhattacherjee, 2022, Molecular Syndromology.

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

K. Girisha, A. Dalal, A. Shukla, 2017, Journal of Human Genetics.

Variable expressivity and response to bisphosphonate therapy in a family with osteoporosis pseudoglioma syndrome

A. Dalal, P. Ranganath, K. Tallapaka, 2017, Indian Pediatrics.

Atypical Stone Man Syndrome: Case Report and Literature Review

A. Dalal, Maheshwar Lakkireddy, P. Ranganath, 2015 .

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

S. Kapoor, S. Phadke, K. Girisha, 2019, BMC Medical Genetics.

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

M. Kabra, S. Phadke, K. Mandal, 2020, JIMD reports.

Indian Undiagnosed Diseases Program (I-UDP) — The Unmet Need

A. Moirangthem, A. Dalal, R. Puri, 2022, Indian Pediatrics.

Fetal phenotypes of Mendelian disorders: A descriptive study from India

V. S. Vineeth, A. Dalal, S. Aggarwal, 2022, Prenatal diagnosis.

Association analysis of FMR1 genetic variants and Primary Ovarian Insufficiency in South Indian women with a novel approach of CGG repeats classification.

A. Dalal, P. Jahan, P. L. Komaravalli, 2020, European journal of medical genetics.

A Novel de novo Balanced Reciprocal Translocation t(18;22) Associated with Recurrent Miscarriages: A Case Report

A. Dalal, U. Dutta, R. Ponnala, 2014, Journal of reproduction & infertility.

A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series

A. Dalal, S. Aggarwal, A. Tandon, 2018, Fetal and pediatric pathology.

Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India.

A. Dalal, U. Dutta, V. K. Pidugu, 2013, Archives of Iranian medicine.

Sickle Cell Anemia—Molecular Diagnosis and Prenatal Counseling: SGPGI Experience

A. Dalal, I. Panigrahi, S. Agarwal, 2011, The Indian Journal of Pediatrics.

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

A. Dalal, A. Shankar, S. Murugan, 2020, European Journal of Human Genetics.

Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia

R. Aggarwal, A. Dalal, Neha Gupta, 2015, PloS one.

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

V. S. Vineeth, A. Dalal, S. Aggarwal, 2018, Journal of Human Genetics.

GAPO syndrome with deafness: new feature or incidental finding?

A. Dalal, S. Aggarwal, A. Uttarilli, 2013, Clinical dysmorphology.

Molecular Diagnostics

T. Saida, A. Dalal, A. Kesari, 2013, BioMed research international.

Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype.

A. Dalal, R. N. Mehrotra, 2009, Clinical dysmorphology.

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome

S. Phadke, A. Dalal, P. Ranganath, 2014, The Indian journal of medical research.

Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel

A. Dalal, S. Aggarwal, A. Tandon, 2019, Journal of Fetal Medicine.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Genetics of Bleeding Disorders

A. Dalal, S. Agarwal, M. Pradhan, 2006 .

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

S. Kapoor, S. Phadke, A. Dalal, 2018, Indian Pediatrics.

Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

A. Dalal, U. Dutta, V. K. Pidugu, 2012, Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences.

Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening

A. Dalal, S. Nampoothiri, F. Sheth, 2018 .

A novel beta-globin mutation (HBB:c.107A>G; or codon 35 β (A→G)) at alpha–beta chain interfaces

A. Dalal, I. Panigrahi, S. Agarwal, 2009, Annals of Hematology.

Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis

K. Girisha, A. Dalal, K. Satyamoorthy, 2010, Annals of Hematology.

Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C‐termini of E1α and E1β

A. Dalal, H. Nagarajaram, A. Chaudhary, 2012, Journal of cellular biochemistry.

Novel and recurrent mutations in WISP3 and an atypical phenotype

M. Kabra, S. Phadke, K. Girisha, 2015, American journal of medical genetics. Part A.

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

Hitesh Shah, S. Phadke, K. Girisha, 2012, American journal of medical genetics. Part A.

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

A. Dalal, P. Rajitha, U. Dutta, 2011, Journal of Assisted Reproduction and Genetics.

Progressive pseudorheumatoid dysplasia.

Hitesh Shah, K. Girisha, A. Dalal, 2000 .

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Hitesh Shah, S. Kapoor, M. Kabra, 2014, American journal of medical genetics. Part A.

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis and polydactyly

S. Phadke, A. Dalal, A. D. Bhowmik, 2017, bioRxiv.

Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS

A. Dalal, S. Aggarwal, U. Dutta, 2019, Journal of reproduction & infertility.

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

V. S. Vineeth, A. Dalal, S. Aggarwal, 2019, Prenatal diagnosis.

Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops

A. Dalal, Amrita Bhattacherjee, P. Ranganath, 2019, Gene Reports.

Recurrent and novel GLB1 mutations in India.

M. Kabra, S. Phadke, K. Girisha, 2015, Gene.

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.

Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials

Y. Hathout, C. Mohan, A. Dalal, 2023, IBRO neuroscience reports.

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, Neuromuscular Disorders.

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene

A. Dalal, S. Patil, Venkatraman Bhat, 2018, American journal of medical genetics. Part A.

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

S. Phadke, P. Srivastava, K. Mandal, 2016, Journal of Genetics.

Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling

A. Dalal, Sejal S Shah, S. J. Patil, 2012, The Indian Journal of Pediatrics.

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

A. Dalal, A. Desai, Asodu Sandeep Sarma, 2022, European journal of medical genetics.

A novel mosaic complex supernumerary marker chromosome in a girl with seizures: systematic characterization of the complex marker

V. S. Vineeth, A. Dalal, U. Dutta, 2017 .

Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome.

A. Dalal, A. Das Bhowmik, 2015, Gene.

Genomic characterization and epidemiology of an emerging SARS-CoV-2 variant in Delhi, India

Manoj Kumar Singh, S. Bhatt, S. Flaxman, 2021, Science.

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, Journal of Inherited Metabolic Disease.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

W. Chung, J. Lupski, R. Myers, 2017, American journal of human genetics.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Association of coronary artery disease with polymorphisms of angiotensin-converting enzyme and methylenetetrahydrofolate reductase gene.

A. Dalal, N. Sinha, Mukesh K. Sharma, 2006, Indian heart journal.

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, Indian Journal of Pediatrics.

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

V. S. Vineeth, A. Dalal, U. Dutta, 2018, Gene.

A comprehensive profile of genomic variations in the SARS-CoV-2 isolates from the state of Telangana, India

R. Sabarinathan, M. Bashyam, A. Dalal, 2021, The Journal of general virology.

Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.

A. Dalal, S. Aggarwal, A. Tandon, 2018, European journal of medical genetics.

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

S. Phadke, A. Dalal, A. Das Bhowmik, 2018, American journal of medical genetics. Part A.

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

W. Chung, J. Lupski, R. Myers, 2016, bioRxiv.

Mutational landscape and dominant lineages in the SARS-CoV-2 infections in the state of Telangana, India

R. Sabarinathan, M. Bashyam, A. Dalal, 2020, medRxiv.

Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome.

S. Phadke, A. Dalal, 2007, Clinical Dysmorphology.

Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy

S. Phadke, A. Dalal, B. Mittal, 2012, Indian journal of human genetics.

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.

A. Dalal, L. Bicknell, S. Aggarwal, 2021, European journal of medical genetics.

Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis

A. Dalal, S. Aggarwal, A. Tandon, 2018, The journal of obstetrics and gynaecology research.

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

A. Dalal, S. Patil, Venkatraman Bhat, 2018, Journal of Human Genetics.

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.

S. Kapoor, M. Kabra, A. Moirangthem, 2022, European journal of medical genetics.

Fetal Left Ventricular Diverticulum Presenting as Dysrhythmia: Diagnosis and Management

A. Dalal, A. Kapoor, Sudeep Kumar, 2007, Fetal Diagnosis and Therapy.

Methylene tetrahydrofolate reductase gene (C677T) polymorphism, folic acid, vitamin B12 and homocysteine in coronary heart disease

Samy, Moustafa, A. Dalal, 2003 .

R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

A. Dalal, V. Sondhi, A. Aneja, 2012, BMJ Case Reports.

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

A. Dalal, G. Srinivas, A. Das Bhowmik, 2015, European journal of medical genetics.

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.

K. Girisha, A. Dalal, G. Bhavani, 2022, Journal of human genetics.

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature

K. Girisha, A. Dalal, A. Gupta, 2015, BMJ Case Reports.

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

M. Kabra, A. Dalal, N. Gupta, 2017, Obesity research & clinical practice.

Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention

A. Dalal, R. Tyagi, Sumit Kumar, 2019, Current genomics.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

M. Kabra, S. Phadke, K. Girisha, 2020, Journal of Human Genetics.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

M. Kabra, S. Phadke, K. Girisha, 2020, Journal of Human Genetics.

Exome Sequencing in Monogenic Forms of Rickets

K. Girisha, A. Dalal, S. Ikegawa, 2023, Indian Journal of Pediatrics.

Does Every Child With Autism Need Investigations for Inborn Errors of Metabolism?

A. Dalal, P. Ranganath, 2023, Indian Pediatrics.

Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.

D. Kelsell, A. Dalal, S. Aggarwal, 2015, Gene.

Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann–Streiff–Francois syndrome

M. Ali, A. Dalal, S. Jalali, 2013, Documenta Ophthalmologica.

Familial choreoathetosis due to novel heterozygous mutation in PDE10A

A. Dalal, D. Narayanan, D. Varma, 2018, American journal of medical genetics. Part A.

Morphometric analysis of face in dysmorphology

Ashwin B. Dalal, Shubha R. Phadke, S. Phadke, 2007, Comput. Methods Programs Biomed..

Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups

V. S. Vineeth, A. Dalal, P. Ranganath, 2021, Clinical Dysmorphology.

A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker.

A. Dalal, U. Dutta, P. Ranganath, 2014, Gene.

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

V. S. Vineeth, A. Dalal, S. Aggarwal, 2018, Journal of Human Genetics.

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

A. Dalal, S. Aggarwal, A. Bahal, 2016, European journal of medical genetics.

A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome.

A. S. Ethayathulla, A. Dalal, S. Sapra, 2021, European journal of medical genetics.

The busy physician's guide to genetics, genomics and personalized medicine

A. Dalal, 2012 .

Brothers with constrictive pericarditis – A novel mutation in a rare disease

A. Dalal, M. Phadke, J. Pahwa, 2016, Indian heart journal.

Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spectrum

V. S. Vineeth, A. Dalal, S. Aggarwal, 2022, American journal of medical genetics. Part A.

Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome?

A. Dalal, P. Ranganath, 2013, Clinical dysmorphology.

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

A. Dalal, P. Ranganath, A. Uttarilli, 2017, Gene.

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

S. Phadke, A. Dalal, A. Sinha, 2015, The Indian journal of medical research.

Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!

A. Dalal, P. Ranganath, S. Aggarwal, 2022, Fetal and pediatric pathology.

A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81

A. Dalal, P. Ranganath, Asodu Sandeep Sarma, 2023, The journal of gene medicine.

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

S. Phadke, A. Dalal, R. Saxena, 2020, Molecular Genetics and Metabolism Reports.

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

S. Phadke, A. Dalal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

Hitesh Shah, M. Kabra, S. Phadke, 2014, American journal of medical genetics. Part A.

Mosaic down syndrome with a marker: molecular cytogenetic characterization of the marker chromosome.

A. Dalal, U. Dutta, V. K. Pidugu, 2012, Gene.

Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India

M. Bashyam, K. Girisha, A. Dalal, 2021, American journal of medical genetics. Part A.

Confirmation of the Zechi‐Ceide syndrome

A. Dalal, S. Patil, V. Bhat, 2012, American journal of medical genetics. Part A.

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

M. Kabra, S. Phadke, A. Dalal, 2019, Journal of Human Genetics.

Fertility in men with Down syndrome: a case report.

A. Dalal, S. Agrawal, F. Khan, 2006, Fertility and sterility.

Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease

M. Kabra, S. Phadke, K. Mandal, 2017 .

Corrigendum to: Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients with Acid Sphingomyelinase Deficient Niemann–Pick Disease (Am J Med Genet A., (2016), 170A, 10, 2719-2730, 10.1002/ajmg.a.37817)

M. Kabra, S. Phadke, K. Mandal, 2017 .

Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment

A. Dalal, S. Patil, K. Shetty, 2020, Journal of movement disorders.

Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development.

A. Dalal, U. Dutta, V. K. Pidugu, 2013, Gene.

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

A. Dalal, U. Dutta, V. K. Pidugu, 2012, Case reports in genetics.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

K. Kandaswamy, D. Trujillano, A. Rolfs, 2016, American journal of medical genetics. Part A.

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

K. Girisha, A. Dalal, A. Shukla, 2017, Journal of Human Genetics.

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India

A. Dalal, M. R. Nandineni, S. Danda, 2012, The Indian journal of medical research.

Phenotypic and genotypic spectrum of CTSK variants in a cohort of Twenty-Five Indian patients with Pycnodysostosis.

S. Kapoor, M. Kabra, S. Phadke, 2021, European journal of medical genetics.

Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis

A. Dalal, Amrita Bhattacherjee, S. Tyagi, 2023, The Indian journal of medical research.

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study

A. Dalal, R. Borgohain, S. Aggarwal, 2022, Neurology India.

Partial proximal trisomy 14: identification and molecular characterization in a girl with global developmental delay.

A. Dalal, U. Dutta, V. K. Pidugu, 2013, Genetic counseling.

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

S. Phadke, Divya Agarwal, A. Dalal, 2015, The Indian journal of medical research.

Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion-Duplication in Chromosome 18q: A Case Report and Review of Literature

A. Dalal, U. Dutta, V. K. Pidugu, 2012, Cytogenetic and Genome Research.

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

A. Dalal, A. Shukla, S. Siddiqui, 2021, European journal of medical genetics.

Giuffrè–Tsukahara syndrome: Evidence for X‐linked dominant inheritance and review

A. Dalal, M. R. Nandineni, A. Sarkar, 2010, American journal of medical genetics. Part A.

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

M. Kabra, A. Dalal, N. Gupta, 2017, Obesity research & clinical practice.

Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology

Y. Hathout, A. Dalal, P. Ratnayake, 2023, Heliyon.

Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2018, American Journal of Medical Genetics. Part A.

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

S. Phadke, P. Srivastava, K. Mandal, 2016, Journal of Genetics.

MTHFR 677C→T and 1298A→C Polymorphisms: Evaluation of Maternal Genotypic Risk and Association with Level of Neural Tube Defect

A. Dalal, S. Behari, S. Agarwal, 2006, Gynecologic and Obstetric Investigation.

Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions

Y. Hathout, A. Dalal, H. Steinbusch, 2023, Journal of clinical medicine.

Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease

M. Kabra, S. Phadke, K. Mandal, 2016, American journal of medical genetics. Part A.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

A. Dalal, S. Aggarwal, A. Bahal, 2016, European journal of medical genetics.

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

K. Kandaswamy, D. Trujillano, A. Rolfs, 2016, American journal of medical genetics. Part A.

Neuromuscular disease genetics in under-represented populations: increasing data diversity

K. Thangaraj, P. Chinnery, S. Efthymiou, 2023, Brain : a journal of neurology.

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders

A. Dalal, P. Ranganath, M. C. Vanaja, 2023, The Indian journal of medical research.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Hitesh Shah, S. Kapoor, M. Kabra, 2014, American journal of medical genetics. Part A.

Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype.

A. Dalal, D. Narayanan, P. Ranganath, 2019, Clinical dysmorphology.

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

M. Kabra, S. Phadke, K. Mandal, 2021, Human mutation.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

S. Kapoor, S. Phadke, K. Girisha, 2019, BMC Medical Genetics.

Progressive pseudorheumatoid dysplasia

K. Girisha, A. Dalal, A. Shukla, 2000, European Radiology.